Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6112158C= , CM000663.2:g.6112158C= | GRCh38 |
| NC_000001.10:g.6172218C= , CM000663.1:g.6172218C= | GRCh37 |
| NC_000001.9:g.6094805C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262450.8:c.5122G= MANE Select | ENSP00000262450.3:p.Ala1708= | |
| ENST00000262450.7:c.5122G= | ENSP00000262450.3:p.Ala1708= | |
| ENST00000377999.5:c.2025G= | ENSP00000367238.2:n.2025G= | |
| ENST00000462991.5:c.3375G= | ||
| ENST00000496404.1:c.3840G= | ENSP00000433676.1:n.3840G= | |
| NM_015557.2:c.5122G= | NP_056372.1:p.Ala1708= | |
| NM_015557.3:c.5122G= MANE Select | NP_056372.1:p.Ala1708= |